Varaico: Literature-Extracted Genetic Variants

Gene:HS6ST1
Variant:p.P242L
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HS6ST1

NM_004807.3:p.P242L

Associated Papers

Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.

Zhang J et al.

Frontiers in Endocrinology, 2024

Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations.

Li S et al.

Reproductive Sciences (thousand Oaks, Calif.), 2021

Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism.

Men M et al.

Journal of Medical Genetics, 2021

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic

Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing.

Liu YJ et al.

Asian Journal of Andrology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."